RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Introduction: In this paper, nonlinear dynamical analysis based on Recurrence Quantification Analysis (RQA) is employed to characterize the nonlinear EEG dynamics.
Behnaz Akbarian, Abbas Erfanian
doaj
Altered hippocampal connectivity dynamics predicts memory performance in neuropsychiatric lupus: a resting-state fMRI study using cross-recurrence quantification analysis. [PDF]
Pentari A +9 more
europepmc +1 more source
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
Sliding Recurrence Analysis and its Application of Gear Vibration Signal
According to the recurrence plot analysis to the gear vibration signal,it is found that there are obvious difference between the gear condition and the driver system characteristics represented by recurrence plots.If the recurrence plots are regarded as ...
Xiao Han, Lv Yong
doaj
An exploration of actigraphy in the context of ketamine and treatment‐resistant depression
Objectives This study explored the potential of non‐parametric and complexity analysis metrics to detect changes in activity post‐ketamine and their association with depressive symptomatology. Methods Individuals with treatment‐resistant depression (TRD:
Claire Punturieri +5 more
doaj +1 more source
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Altered neuromuscular control in the vastus medialis following anterior cruciate ligament injury: A recurrence quantification analysis of electromyogram recruitment. [PDF]
Hollman JH +5 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Recurrence quantification analysis of heart rate variability to detect both ventilatory thresholds. [PDF]
Zimatore G +7 more
europepmc +1 more source

